Alessandra d'Azzo Selected Research

Mucolipidoses (Sialidosis)

1/2020	Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency
1/2020	Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
1/2020	Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations.
1/2020	Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.
1/2019	Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis.
1/2015	Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.
6/2014	Lysosomal multienzyme complex: pros and cons of working together.
10/2013	Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis.
12/2010	Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease.
2/2010	Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice.

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Alessandra d'Azzo Research Topics

Disease

16	Lysosomal Storage Diseases (Lysosomal Storage Disease) 03/2021 - 07/2005
13	Mucolipidoses (Sialidosis) 01/2020 - 06/2002
11	Neuraminidase deficiency with beta-galactosidase deficiency 12/2021 - 05/2002
10	GM1 Gangliosidosis (Gangliosidosis GM1) 01/2021 - 08/2004
7	Neuraminidase 1 deficiency 01/2021 - 10/2008
3	Glycoprotein Storage Disease 01/2019 - 12/2010
2	Edema (Dropsy) 01/2020 - 06/2002
2	Splenomegaly 01/2020 - 06/2002
2	Sandhoff Disease (Sandhoff's Disease) 05/2015 - 06/2007
2	Gangliosidoses (Gangliosidosis) 05/2015 - 06/2007
2	Neurodegenerative Diseases (Neurodegenerative Disease) 09/2004 - 08/2004
1	Congenital Abnormalities (Deformity) 03/2021
1	COVID-19 03/2021
1	Infections 03/2021
1	Disease Progression 01/2021
1	Rare Diseases (Rare Disease) 01/2020
1	Intellectual Disability (Idiocy) 01/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 12/2019
1	Neoplasms (Cancer) 12/2015
1	Fibrosis (Cirrhosis) 09/2015
1	Prion Diseases (Transmissible Spongiform Encephalopathies) 01/2015
1	Confusion (Bewilderment) 08/2013
1	Alzheimer Disease (Alzheimer's Disease) 01/2013
1	Infertility (Sterility) 02/2012
1	Mucopolysaccharidosis IV (Morquio Syndrome) 07/2011
1	Hearing Loss (Hearing Impairment) 02/2010
1	Congenital Structural Myopathies (Centronuclear Myopathy) 03/2009
1	Neuroinflammatory Diseases 10/2005
1	Hydrops Fetalis (Fetal Edema) 07/2005
1	Kyphosis 06/2002
1	Ataxia (Dyssynergia) 05/2002

Drug/Important Bio-Agent (IBA)

11	Proteins (Proteins, Gene)FDA Link 12/2021 - 05/2002
11	5'-deoxy-5'-phosphonomethyladenosine phosphateIBA 12/2021 - 05/2002
11	Neuraminidase (Sialidase)IBA 01/2021 - 07/2005
9	GalactosidasesIBA 03/2021 - 10/2010
8	Cathepsin AIBA 12/2021 - 05/2002
5	GlycosphingolipidsIBA 01/2015 - 06/2007
4	EnzymesIBA 01/2021 - 06/2002
4	HydrolasesIBA 12/2019 - 12/2010
3	Polysaccharides (Glycans)IBA 03/2021 - 01/2018
3	Lysergic Acid Diethylamide (LSD)IBA 01/2020 - 02/2010
3	OligosaccharidesIBA 01/2020 - 06/2002
3	beta-Galactosidase (Lactaid)IBA 07/2011 - 09/2004
2	Galactose (Galactopyranose)FDA LinkGeneric 01/2020 - 12/2019
2	Glycoproteins (Glycoprotein)IBA 01/2020 - 12/2010
2	Amino Acids FDA Link 01/2020 - 07/2011
2	GangliosidesIBA 12/2019 - 05/2015
1	Virus ReceptorsIBA 03/2021
1	Complement System Proteins (Complement)IBA 01/2021
1	Betaine (C.B.B.)FDA Link 01/2020
1	GlycoconjugatesIBA 12/2019
1	Biological ProductsIBA 12/2019
1	GlycolipidsIBA 12/2019
1	Pharmaceutical PreparationsIBA 12/2015
1	Collagen Type III (Type III Collagen)IBA 09/2015
1	Hexosaminidases (Hexosaminidase)IBA 05/2015
1	bis(monoacylglyceryl)phosphateIBA 05/2015
1	G(M2) Ganglioside (Ganglioside GM2)IBA 05/2015
1	LipidsIBA 05/2015
1	Fatty Acids (Saturated Fatty Acids)IBA 05/2015
1	SialoglycoproteinsIBA 01/2015
1	Prion ProteinsIBA 01/2015
1	Protein Isoforms (Isoforms)IBA 08/2013
1	Amyloid (Amyloid Fibrils)IBA 01/2013
1	Protein AggregatesIBA 01/2013
1	AcidsIBA 10/2010
1	Lysosomal Membrane ProteinsIBA 02/2010
1	Dynamins (Dynamin)IBA 03/2009
1	ElastinIBA 10/2008
1	Retinaldehyde (Retinal)IBA 06/2007
1	Messenger RNA (mRNA)IBA 02/2007
1	ChemokinesIBA 10/2005
1	Chemokine CCL4IBA 10/2005
1	Chemokine CXCL12IBA 10/2005
1	Chemokine CCL3IBA 10/2005
1	G(M1) GangliosideIBA 08/2004
1	acid beta-galactosidaseIBA 08/2004
1	CarboxypeptidasesIBA 05/2002

Therapy/Procedure

8	Therapeutics 01/2020 - 06/2002
5	Enzyme Replacement Therapy 03/2021 - 07/2005